1. Troglitazone 2. Metformin 3. Glimepiride 4. Acarbose 5. Sitagliptin 6. Exenatide 7. Rosiglitazone 8. Repaglinide 9. Glycuride 10. Miglitol 11. Pioglitazone 12. Nateglinide 13. Glipizide

1. Thiazolidinediones 2. Biguanides 3. Sulfonylureas 4. alpha-glucosidase 5. DDP-4 inhibitor 6. GLP-1 analog 7. Thiazolidinediones 8. Meglitinides 9. Sulfonylureas 10. alpha-glucosidase 11. Thiazolidinediones 12. Meglitinides 13. Sulfonylureas

Hyperextensible skin Hypermobile joints - assoc with - mutation - collagen

Ehlers-Danlos Berry and aortic aneurysms Classic type - Type V collagen - COL5A1, COL5A2 Vascular type - deficent type III collagen

Edwards syndrome trisomy 18 - signs - labs

Rocker bottom feet Overlapping fingers Low set Ears Micrognathia Decreased - alpha feto protein - hCG - estriol - inhibin (normal)

FM Extra Flashcards by Aubrey Ann

Murmur that decreases with valsalva

Aortic stenosis

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Constrictive pericarditis ECG (4)

ECG low voltage
T wave flattening
Inverted V1/V2
Notched P

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Hepatomegaly seen with what murmur

Tricuspid regurg

Tricuspid stenosis

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Troglitazone
Metformin
Glimepiride
Acarbose
Sitagliptin
Exenatide
Rosiglitazone
Repaglinide
Glycuride
Miglitol
Pioglitazone
Nateglinide
Glipizide

Thiazolidinediones
Biguanides
Sulfonylureas
alpha-glucosidase
DDP-4 inhibitor
GLP-1 analog
Thiazolidinediones
Meglitinides
Sulfonylureas
alpha-glucosidase
Thiazolidinediones
Meglitinides
Sulfonylureas

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Systolic ejection murmur

Crescendo descendo

Aortic stenosis

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Seen w/ pericardial tamponade (5)

Beck’s triad
Hypotension
Muffled heart sounds
JVD

Narrow pulse pressure

Systolic BP drops by 10 w/ inspiration

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Pregnancy screenings

28 weeks: gestational diabetes

36 weeks: Group B strep

[27-36 wks vaccination: Tdap]

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Rupture of papillary muscles causes

Mitral regurg

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Self mutilation

Intellectual disability

Lesch-Nyhan syndrome
- X linked

Defective purine salvage

HGPRT absent

HGPRT

Hyperuricemia
Gout
Pissed off
Retardation
Dystonia

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Lesch-Nyhan syndrome see an increase in

Phosphoribosyl pyrophospahte amidotransferase (PRPP aminotransferase)

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Coarse facial features
Clouded corneas
Restricted joint movements
High plasma level of lysosomal enzymes

Fatal childhood

names
defect
failure
what happens

I-cell disease
(inclusion cell disease, mucolipidosis type II)

Inherited lysosomal storage disorder

defect in N-acetylglucosaminyl-1-phosphotransferase

failure of golgi to phosphorylate mannose residues on glycoproteins (decrease mannose-6-phosphate)

Proteins secreted extracellularily rather than to lysosomes

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Primary ciliary dyskinesia

Kartagener syndrome

Immotile cilia due to dynein arm defect

Recurrent pulmonary infection
Digital clubbing
Abnormal immotile spermatoozoa
Sinus inversus
dysfunctional fallopian tube cilia

Bronchiectasis
Recurrent sinusitis
Chronic ear infections

Increased risk of ectopic pregnancy
Conductive hearing loss

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Hyperextensible skin
Hypermobile joints

assoc with
mutation
collagen

Ehlers-Danlos

Berry and aortic aneurysms

Classic type

Type V collagen
COL5A1, COL5A2

Vascular type
- deficent type III collagen

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Tall with long limbs
Hypermobile joints
Long fingers and toes
subluxation of lens upward

inheritence
mutation
associated with

Marfan syndrome

FBN1 gene chr 15

Defective fibrillin
- glycoprotein forms sheath around elastin

Cystic medial necrosis of aorta, Aortic incompetence
Disssecting aorta
Floppy mitral valve

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Eats everything
Obese
Intellectual disability
Hypotonia

Other key symptom

Prader-Willi

Maternal imprinting

Mom gene= silent
Dad gene= mutated

Hypogonadisum

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Inappropriate laughter
Intellectual disability

Other key symptom

AngelMan syndrome

Paternal imprint

Dad gene= silent
Mom= mutated

Seizues
Ataxis

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Large Jaw
Macroorchidism
Long face
Large ears

inheritence
mutation
causes
assoc with

Fragile X syndrome

X linked dominant

Trinucleotide repeat in FMR1 (CGG)

–> hypermethylation

Autism
Mitral valve prolapse

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Edwards syndrome trisomy 18

signs
labs

Study These Flashcards

Rocker bottom feet
Overlapping fingers
Low set Ears
Micrognathia

Decreased

alpha feto protein
hCG
estriol
inhibin (normal)

Patau syndrome trisomy 13

signs
labs

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Rocker bottom feet
Microcephaly
cleft lip/palate
holoprosencephaly
polydactyly

decreased beta hCG
Decreased PAPP-A

Musty odor
Seizuers
Intellectual disability
Fair skin
eczema

deficency
inheritence

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PKU

Phenylalanine hydroxylase
Tetrahydrobiopterin (BH4)

Bluish black ear cartilage
Sclerae
urine turns black

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Alkaptonuria

deficiency homogentisate oxidase

Tall person
Sublux lens down
osteoporosis
kyphosis

inheritence
defect
tx

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Homocystinuria

Cystathionine synthase def
- Tx dec methionine, increase cysteine, increase B6 B12 folate

Decreased affinity for B 6
- Tx increase B6, cysteine

Methionine synthase def
- Tx increase methionine

Hepatomegaly
Gout
Fasting hypoglycemia
Seizure
Lactic acidosis

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Von Gierke

deficiency: Glucose-6-phosphatase

Cardiomegaly
severe muscle weakness
hypotonia
exercise intolerance

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Pompe disease

deficiency alpha 1,4 glucosidase in lysosome

Hypoglycemia Hepatomegaly Normal lactate levels

Cori disease deficiency debranching enzyme alpha-1,6, glucosidase

Muscle cramps | Red urine w/ exercise

McArdle disease GLycogen phosphorylase in skeletal muscle

Cherry red spot Lysosomes onion skin No hepatosplenomegaly Progressive neurodegeneration

TaySachs deficient: Hexosaminidase A accumulate: GM2 ganglioside AR tAy-saX heXosaminidase A " a Gang of 6 small Jews"

Painless papules on lower abdomen (small red/blue marks) peripheral neuropathy glomerulopathy (renal failure) Decreased sweat ( hypohidrosis)

Fabry disease XR Deficient: alpha- galactosidase Accumulation: ceramide trihexoside; globotriaosylceramide "my fabrite activity is ceramics class we made a galaXy"

``` A 3-year-old girl is brought to her pediatrician because of a progressive loss of motor function and a decline in her cognitive abilities. On physical examination, it is noted that the patient has decreased deep tendon reflexes, truncal ataxia, and a decreased attention span in comparison to the child’s last visit 6 months ago. The physician knows that her pathology is due to an abnormal accumulation of cerebroside sulfate in her brain, peripheral nerves, kidney, and liver. A defi ciency of which of the following enzymes leads to this condition? (A) α-Galactosidase A (B) β-Galactosidase (C) Arylsulfatase A (D) Hexosaminidase A (E) Sphingomyelinase ```

(C) Arylsulfatase A Metachromatic leukodystrophy Central and peripheral demyelination with ataxia and dementia Deficiency arylsulfatase A Accumulation cerebrosulfate AR

Metachromatic leukodystrophy

Central and peripheral demyelination with ataxia and dementia Deficiency arylsulfatase A Accumulation cerebrosulfate AR

Krabbe diease

``` Peripheral neuropathy Destruction of oligodendrocytes Developmental delays Optic atrophy GLobid cells ``` Deficiency: galactocerebrosidase Accumulated: galactocerebroside psychosine AR "This Krabbe is galaxy headed" This krab is out of this world" big glob of krab= globoid

Numbness and tingling in extremities Blurriness in eyes Developmental delays

Krabbe Deficiency: galactocerebrosidase Accumulated: galactocerebroside psychosine AR

``` Hepatomegaly Pancytopenia Osteoporosis Avascular necrois of femur Lipid laden marcophages - crumped tissue paper ``` Cherry red spot

Gaucher disease Def: glucocerebrosidase Accum: glucocerebroside AR " oh my gauch hes such a bro" crying voice= tissue paper cytoplasm

Progressive neurodegeneration Hepatosplenomegaly Lipid-laden macrophages cherry red spot

Niemann-Pick disease Def: sphingomyelinase Acc: sphingomyelin AR "Pick your BIG nose with your sphinger"

Hepatosplenomegaly Corneal clouding Gargoylism Developmental delay

Hurler syndrome Def: alpha-L- iduronidase Accum: heparan sulfate, dermatan sulfate Glycosaminoglycans (GAGs) hurLer= L-iduronidase

``` 2 y.o Progressive deterioration Coarse facial features Hepatosplenomegaly Intellectual disability Poor growth (dwarfism) Aggressive behavior ```

Hunter syndrome Deficient: iduronate sulfatase Accumulation: heparan sulfate and dermatan sulfate XR "X marks the spot" "Id hunt it my sulf, dermined Cant hunt w/ corneal clouding

1. Anti-ACh receptor 2. Anti-desmoglein 3. Anti-hemidesmosome 4. anti-helicase 5. antimicrosomal 6. antimitochondrial

1. Myasthenia gravis 2. Pemphigus vulgaris 3. Bullous pemphigous 4. Polymyositis, dermatomyositis 5. Hashimoto 6. Primary biliary cirrhosis

Asbestos affects what part of lungs

Lower lobes

Silica affects what part of lungs

Upper lobes

Coal affects what part of lungs

Upper lobes

Ivory white calcified plaques what type of work

Asbestosis Shipbuilding Roofing plumbing

Golden brown dumbbells on sputum sample

Asbestosis

Fibrosis | Eggshell calcifications of hilar LN on CXR

Silicosis

FM Extra Flashcards

(43 cards)